Linked Data
ClinVar Variation Id:
372716
dbSNP Id:
rs199683937
ExAC:
11:67379453 A / C
gnomAD v2:
11-67379453-A-C
gnomAD v3:
11-67611982-A-C
gnomAD v4:
11-67611982-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611982A>C , CM000673.2:g.67611982A>C | GRCh38 |
| NC_000011.9:g.67379453A>C , CM000673.1:g.67379453A>C | GRCh37 |
| NC_000011.8:g.67136029A>C | NCBI36 |
| NG_013353.1:g.10131A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322776.11:c.1162+4A>C MANE Select | ENSP00000322450.6:n.1162+4A>C | |
| ENST00000647561.1:c.1162+4A>C | ENSP00000497587.1:n.1162+4A>C | |
| ENST00000322776.10:c.1162+4A>C | ENSP00000322450.6:n.1162+4A>C | |
| ENST00000415352.6:c.1141+4A>C | ENSP00000395368.2:n.1141+4A>C | |
| ENST00000526770.5:n.1445+4A>C | ||
| ENST00000527355.5:c.370-138A>C | ENSP00000432637.1:n.370-138A>C | |
| ENST00000527923.1:n.504+4A>C | ||
| ENST00000529927.5:c.1135+4A>C | ENSP00000436766.1:n.1135+4A>C | |
| ENST00000531250.1:n.426+4A>C | ||
| ENST00000532303.5:c.859+4A>C | ENSP00000432015.1:n.859+4A>C | |
| ENST00000533919.5:c.566+4A>C | ENSP00000435199.1:n.566+4A>C | |
| ENST00000534352.1:n.264A>C | ||
| NM_001166102.1:c.1135+4A>C | NP_001159574.1:n.1135+4A>C | |
| NM_007103.3:c.1162+4A>C | NP_009034.2:n.1162+4A>C | |
| NM_001166102.2:c.1135+4A>C | NP_001159574.1:n.1135+4A>C | |
| NM_007103.4:c.1162+4A>C MANE Select | NP_009034.2:n.1162+4A>C |